Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5045216019 | Primary dystonia DYT27 type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
5045217011 | Primary dystonia type 27 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5045218018 | Primary dystonia type 27 | en | Synonym | Active | Case insensitive | SNOMED CT core |
5045219014 | A rare genetic dystonia with characteristics of focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Primary dystonia DYT27 type | Is a | Dystonia | true | Inferred relationship | Some | ||
Primary dystonia DYT27 type | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Primary dystonia DYT27 type | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Primary dystonia DYT27 type | Interprets | Movement | true | Inferred relationship | Some | 2 | |
Primary dystonia DYT27 type | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set